Canonical Allele Identifier: CA313292
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 204891
dbSNP Id: rs765936799

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130461G>A , CM000663.2:g.160130461G>A GRCh38
NC_000001.10:g.160100251G>A , CM000663.1:g.160100251G>A GRCh37
NC_000001.9:g.158366875G>A NCBI36
NG_008014.1:g.19704G>A , LRG_6:g.19704G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1691G>A MANE Select ENSP00000354490.3:p.Arg564Gln
ENST00000361216.7:c.1691G>A ENSP00000354490.3:p.Arg564Gln
ENST00000392233.7:c.1691G>A ENSP00000376066.3:p.Arg564Gln
ENST00000447527.1:c.823G>A
ENST00000472488.5:n.1794G>A
NM_000702.3:c.1691G>A NP_000693.1:p.Arg564Gln
NM_000702.4:c.1691G>A MANE Select NP_000693.1:p.Arg564Gln